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This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This study found that various steroids affected the mRNA expression of enzymes involved in lipid metabolism in hamster flank organs, with different impacts depending on the steroid and combination used.